Spina Bifida

What is spina bifida?

Spina bifida is a birth defect, which affects the development of the spinal column and nervous system. Spina bifida affects the development of the neural tube; the neural tube is present in all foetuses and develops into the spinal column and a series of other importance structures and cells which form the nervous system. In babies with spina bifida, the neural tube does not develop properly and the spinal column does not fully close; the name spina bifida comes from the Latin meaning split spine.

There are many different types of spina bifida but there are three forms which are more common; these include:

• Spina bifida occulta: this is the most common form of the condition; it occurs as a result of a tiny gap between the vertebrae which are created because the spinal column does not close fully. This is a very mild condition, which rarely requires treatment.
• Spina bifida meningocele: this is the rarest form of the condition. It occurs as a result of the membranes between the membranes being pushed out.
• Myelomeningocele: this form of spina bifida affects 1 in 1,000 babies; this is the most serious form of the condition. In this form of spina bifida, there are many openings between the vertebrae and the protective membranes and spinal cord are pushed out of these gaps to form a sac along the baby’s back. This form of spina bifida usually causes serious problems relating to the nervous system and can prove fatal in some cases.

What are the causes of spina bifida?

In the vast majority of cases, the cause of spina bifida remains unknown; however research has suggested a number of risk factors; these include:

• A lack of folic acid: it is not known how folic acid helps to prevent spina bifida but a lack of the mineral has been found to be the most significant risk factor. All pregnant women are advised to increase their intake of folic acid during pregnancy; this can either be done by eating certain foods or taking folic acid supplements. Research has proven that women with a low intake of folic acid are eight times more likely to have a baby with spina bifida.
• Previous history: if you already had a baby with spina bifida, there is a slightly higher risk of you having a baby with the condition; it is estimated that you are around 3-8 percent more likely to have another baby with spina bifida.
• Medications: certain medications can increase the risk of having a baby with spina bifida; these medications include valproic acid and carbamazepine. These medicines are sometimes used to treat mental health problems including schizophrenia and bipolar disorder. If you are taking these medications and are planning to have a baby in the near future you should discuss alternative treatments with your doctor.
• Obesity: obesity increases the risk of having a baby with spina bifida; women who are severely obese with a BMI of over 40 (a healthy BMI for a woman is between 19 and 25) are around three times more likely to have a baby with the condition.
• Diabetes: women with diabetes are believed to have a higher risk of having a baby with spina bifida because of the high levels of glucose in their blood; the risk will depend on the severity of the mother’s condition but women with diabetes are estimated to be around three to eight times more likely to have a baby with spina bifida.

What are the symptoms of spina bifida?

Spina bifida can contribute to a large range of symptoms; usually the symptoms will depend on the form of spina bifida and the severity of the case. The nature of the symptoms also depends on the location of the opening in the spine and whether the baby also suffers from fluid on the brain as a result of the condition.

The main symptoms of spina bifida are usually classified as follows:

• Cognitive symptoms
• Bladder and bowel symptoms
• Mobility and movement symptoms

Cognitive symptoms

Cognitive symptoms affect the development and function of the brain; common symptoms include:

• Below-average intelligence (an average IQ of 80)
• Learning difficulties including difficulty with reading, difficulty understanding abstract concepts and solving problems.
• A lack of concentration
• Problems with organisation
• A lack of coordination

Bladder and bowel symptoms

Bladder and bowel symptoms occur because the nerves in the spinal column are responsible for controlling the sphincter muscles in these organs; common symptoms include:

• Incontinence
• Constipation
• Diarrhoea

Mobility symptoms

Spina bifida affects the brain’s ability to control the muscles; consequently, a large number of children with spina bifida have some degree of paralysis and experience difficulties with mobility. Common symptoms include:

• Weaker bones, which can increase the risk of fractures and breaks
• Abnormally shaped bones
• Curvature of the spine
• Muscle weakness
• Restricted movement

Complications of spina bifida

As well as the symptoms listed above, there are certain complications which can result from spina bifida; these are outlined below:

• Allergies: people with spina bifida are often prone to developing allergies, including latex allergies; some foods also contain latex which can cause allergic reactions; possible food allergies include:

• Strawberries
• Bananas
• Pineapple
• Soy
• Mango
• Avocado
• Kiwi fruit

• Problems with the shunt: if the baby has had a shunt fitted to drain fluid from the brain, there is a risk of malfunction, which could be very serious. Symptoms of a shunt malfunction in babies include:

• An increase in the circumference of the head
• A bulge in the front of the baby’s skull
• Problems with feeding
• Abnormal breathing

      Symptoms of malfunctions amongst adults and older children include:

• Headaches
• Nausea
• Sickness
• Lethargy
• Double vision or blurred vision

How is spina bifida diagnosed?

Most cases of spina bifida are diagnosed during pregnancy; this is usually done by routine blood tests. Blood tests can detect levels of a protein called alpha fetoprotein; the level of the protein is higher when the baby has spina bifida, but a higher than normal reading does not always mean the baby has spina bifida.

Other antenatal screening tests may be used to diagnose spina bifida; ultrasound scans may be able to detect abnormalities with the spine and if your doctor has suspicions from your blood test or ultrasound scans, they may advise you to have an amniocentesis test, which uses a sample of the amniotic fluid to test for a range of birth defects and inherited conditions.

What treatments are available for spina bifida?

Each child that is diagnosed with spina bifida will be put in contact with a care team, which will consist of a number of different health professionals. The multi-disciplinary team will be responsible for providing care and support for all aspects of the child’s health and well being; typically the care team will be made up of:

• A paediatrician
• Physiotherapist
• Occupational therapist
• Social worker
• A urologist
• A neurologist
• A health visitor
• An incontinence advisor

Each child will have a unique care plan, which will be tailored to suit their individual needs.

Examples of treatments include surgery, physiotherapy and occupational therapy. Surgery is commonly used to correct the opening in the spine; this is usually carried out within the first few hours of the baby’s life. During the procedure, the surgeon will place any membranes or structures which have been pushed out, back into the spinal column and close the gap between the vertebrae. If the baby has developed hydrocephalus (fluid on the brain), the surgeon will also insert a shunt in the brain; this is a thin tube, which is designed to drain the fluid from the brain and transport it to other areas of the body.

After surgery has been completed, the child will be supported with additional therapies, such as physiotherapy and occupational therapy to encourage development, improve mobility, strengthen the muscles and promote independence. The medical team will also continue to monitor the child’s condition and will attend to any medical symptoms.

In some cases, further surgery may be required; this is usually carried out if the child develops problems with the shape of their bones, for example if their spine starts to curve.

Controlling incontinence is an important part of spina bifida care; this will help to boost their independence and will also increase their self-esteem. Possible treatments to control incontinence include using a catheter or having an artificial urinary sphincter.

There are also many ways to treat bowel incontinence, including surgery, enemas, strapping and taking certain types of medication. Dieticians can also help with bowel incontinence.

Preventing spina bifida

The most effective way to reduce the risk of having a baby with spina bifida is to take folic acid supplements or eat a diet that is high in folic acid. Foods that rich in folic acid include:

• Leafy green vegetables, including spinach and watercress
• Granary and seeded bread
• Cereals (often, these have a label saying ‘fortified with folic acid’

Folic acid supplements are widely available at pharmacists, high street chemists and supermarkets.

If you are already taking medication for another health condition, you should discuss this with your doctor before you start taking folic acid.

Support for children, parents and adults with spina bifida

If you are struggling to come to terms with the fact that you are having a baby with spina bifida, you may wish to talk to a genetic counsellor. You can also contact the Association for Spina Bifida and Hydrocephalus for advice, information and support.

If you have spina bifida and you want to talk to somebody about your condition, you can talk to your GP or a member of your care team; if you want to talk to somebody anonymously, you can contact a number of charities, including Child line, the Samaritans and the Association for Spina Bifida and Hydrocephalus.